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Details for GLI3:c.1161del, p.Pro388GlnfsTer13

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
42065878	42026279

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

GA

ALTERNATE ALLELE

G

TRANSCRIPT

N.A.

CDNA CHANGE

c.1161del

PROTEIN CHANGE

p.Pro388GlnfsTer13

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	3.422338	Disease causing

DBSNP ID

1 combination linked to GLI3:c.1161del, p.Pro388GlnfsTer13

1 disease linked to GLI3:c.1161del, p.Pro388GlnfsTer13

Hypogonadotropic hypogonadism with Fertile Eunuch phenotype

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